NM_000264.5(PTCH1):c.3306+83dup
|
rs5899258
|
0.45976
|
NM_000264.5(PTCH1):c.1348-136C>T
|
rs2297086
|
0.44647
|
NM_000264.5(PTCH1):c.2561-80G>C
|
rs2274692
|
0.44599
|
NM_000264.5(PTCH1):c.747-114C>T
|
rs2297088
|
0.44525
|
NM_000264.5(PTCH1):c.2887+21A>G
|
rs2236406
|
0.44137
|
NM_001083603.3(PTCH1):c.198+261G>T
|
rs28591501
|
0.37633
|
NM_000264.5(PTCH1):c.201+275T>C
|
rs1355620
|
0.37553
|
NM_000264.5(PTCH1):c.1067+139T>C
|
rs2274694
|
0.23224
|
NM_000264.5(PTCH1):c.747-55T>C
|
rs2297087
|
0.23055
|
NM_000264.5(PTCH1):c.1504-51C>G
|
rs574688
|
0.19156
|
NM_000264.3(PTCH1):c.-8727A>T
|
rs28704635
|
0.16898
|
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=)
|
rs2066836
|
0.15395
|
NM_000264.5(PTCH1):c.395-231T>C
|
rs2282041
|
0.12136
|
NM_000264.5(PTCH1):c.395-276_395-275insT
|
rs3215874
|
0.11241
|
NM_000264.5(PTCH1):c.395-172T>C
|
rs2282040
|
0.10585
|
NM_000264.5(PTCH1):c.584+177G>A
|
rs28673156
|
0.10583
|
NM_000264.5(PTCH1):c.3449+129A>G
|
rs28583690
|
0.09835
|
NM_001083603.3(PTCH1):c.198+492G>A
|
rs113154802
|
0.08053
|
NM_000264.5(PTCH1):c.1504-8T>C
|
rs2277184
|
0.07277
|
NM_000264.5(PTCH1):c.*237G>C
|
rs28688501
|
0.06717
|
NM_000264.5(PTCH1):c.3805-225C>T
|
rs77789632
|
0.05529
|
NM_000264.5(PTCH1):c.*1373G>C
|
rs16909865
|
0.05498
|
NM_000264.5(PTCH1):c.1067+74A>G
|
rs55706201
|
0.04737
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000264.5(PTCH1):c.3307-66G>C
|
rs2274690
|
0.04654
|
NM_000264.5(PTCH1):c.*1616A>C
|
rs73540181
|
0.04606
|
NM_000264.5(PTCH1):c.*1709G>A
|
rs73540175
|
0.04602
|
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)
|
rs2066835
|
0.03773
|
NM_000264.5(PTCH1):c.2703+282G>A
|
rs28441412
|
0.03255
|
NM_000264.5(PTCH1):c.*1702C>T
|
rs115675849
|
0.02824
|
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His)
|
rs73527759
|
0.02608
|
NM_000264.5(PTCH1):c.3307-152G>A
|
rs55989544
|
0.02262
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_000264.5(PTCH1):c.3805-197T>A
|
rs76562151
|
0.02086
|
NM_000264.5(PTCH1):c.2888-271G>A
|
rs56163504
|
0.01758
|
NM_000264.5(PTCH1):c.1216-201C>T
|
rs56319001
|
0.01623
|
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)
|
rs138240178
|
0.01089
|
NM_000264.5(PTCH1):c.*1+37A>G
|
rs56237839
|
0.00987
|
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)
|
rs2227968
|
0.00959
|
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)
|
rs2066830
|
0.00827
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
NM_000264.5(PTCH1):c.394+71A>G
|
rs554272795
|
0.00546
|
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)
|
rs58629309
|
0.00466
|
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)
|
rs111446700
|
0.00379
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_000264.5(PTCH1):c.2888-44C>T
|
rs45602737
|
0.00075
|
NM_000264.5(PTCH1):c.3805-9C>T
|
rs2236404
|
0.00072
|
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)
|
rs2229062
|
0.00063
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)
|
rs149398794
|
0.00021
|
NM_000264.5(PTCH1):c.624G>A (p.Glu208=)
|
rs777231059
|
0.00004
|
NM_000264.5(PTCH1):c.228G>A (p.Pro76=)
|
rs140542305
|
0.00001
|
NM_000264.5(PTCH1):c.*664dup
|
rs111365480
|
|
NM_000264.5(PTCH1):c.1067+107G>A
|
rs55873843
|
|
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=)
|
rs2118365117
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.201+101T>A
|
rs79663574
|
|
NM_000264.5(PTCH1):c.201+115_201+122del
|
rs71366292
|
|
NM_000264.5(PTCH1):c.201+119_201+120del
|
rs369915085
|
|
NM_000264.5(PTCH1):c.201+123_201+126del
|
rs139100790
|
|
NM_000264.5(PTCH1):c.201+242GT[8]
|
rs139956254
|
|
NM_000264.5(PTCH1):c.201+242GT[9]
|
rs139956254
|
|
NM_000264.5(PTCH1):c.201+272T>C
|
rs1355619
|
|
NM_000264.5(PTCH1):c.2561-207C>G
|
rs28698995
|
|
NM_000264.5(PTCH1):c.2704-69C>A
|
rs1189467853
|
|
NM_000264.5(PTCH1):c.3605C>T (p.Pro1202Leu)
|
rs374097441
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000264.5(PTCH1):c.395-82T>A
|
rs2118555124
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|